Syndrome de Gitelman acquis au cours d’un syndrome de Gougerot-Sjögren associé à une sclérodermie

Hinschberger, O.; Martzolff, L.; Ioannou, George N.; Baumann, Dorothee; Jaeger, F; Kieffer, P.

doi:10.1016/j.revmed.2010.08.017

Cited by 10 publications

(1 citation statement)

References 11 publications

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“…Among them, two cases (4,5) underwent a genetic analysis but no mutations in SLC12A3 were found. The heterozygous mutation in SLC12A3 could be responsible for the latent hypofunction of NCCTs.…”

Section: Discussionmentioning

confidence: 99%

Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a <i>SLC12A3</i> Heterozygous Mutation

et al. 2016

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A 36-year-old woman developed hypokalemic metabolic alkalosis after anti SS-A antibody was found to be positive. Diuretic loading test results were compatible with Gitelman syndrome (GS). The patient had a heterozygous mutation in SLC12A3, which encodes for thiazide-sensitive NaCl cotransporter (NCCT). While the mutation may be responsible for a latent hypofunction of NCCTs, the underlying anti-SSA antibody-associated autoimmunity induced the manifestation of its hypofunction. To the best of our knowledge, this is the first report to demonstrate that anti SS-A antibody-associated autoimmunity may induce GS in a patient with a SLC12A3 heterozygous mutation.

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Section: Discussionmentioning

confidence: 99%

Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a <i>SLC12A3</i> Heterozygous Mutation

et al. 2016

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Acquired autoimmune Bartter syndrome in a patient with primary hypothyroidism

et al. 2021

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We describe an unusual clinical presentation of autoimmune Bartter syndrome in a patient with primary hypothyroidism. A 65-year-old female patient was admitted with neuromuscular weakness associated with hypokalemia and metabolic alkalosis. She had a suboptimal response to potassium supplementation and potassium-sparing diuretic resulting in re-hospitalization with the same symptoms. A detailed serum and urinary biochemistry analysis in the absence of other causes of potassium wasting helped diagnose Bartter syndrome, a rare entity in adults. An autoimmune profile showed anti-Scl-70 antibody to be positive, although she did not develop other systemic features of the disease. Our patient responded to a steroid-based regimen potassium supplement, Indomethacin, and aldosterone antagonist with remarkable resolution of symptoms and correction of electrolyte derangement. We reviewed the literature to search for similar cases and included twenty-seven fulllength publications on acquired and autoimmune causes of Bartter syndrome. Our case highlights the fact that hypokalemia with metabolic alkalosis in an adult patient should prompt clinicians to evaluate for common and uncommon conditions. While assessing for abnormal conditions, acquired Bartter syndrome should be considered if a patient has an underlying autoimmune, endocrine, or connective tissue disease.

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Inherited, not acquired, Gitelman syndrome in a patient with Sjögren’s syndrome: importance of genetic testing to distinguish the two forms

et al. 2017

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Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren’s syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren’s syndrome. A 41-year-old woman, who had been diagnosed with Sjögren’s syndrome at 27-years-old, had shown chronic hypokalemia (2.5–3.5 mmol/L). Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, and hypocalciuria, corresponding to GS. Although acquired GS associated with Sjögren’s syndrome was initially suspected, a genetic test identified a novel homozygous mutation of c.1336-2A > T in the SLC12A3 gene, which resulted in aberrant splicing in the SLC12A3 transcript with the exclusion of exons 11 and 12. Thus, the GS was diagnosed as not the acquired but the inherited form. In the diagnosis of GS in patients with autoimmune disease, genetic testing of SLC12A3 is essential for differentiating the two forms.Electronic supplementary materialThe online version of this article (doi:10.1007/s13730-017-0271-4) contains supplementary material, which is available to authorized users.

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Syndrome de Gitelman acquis au cours d’un syndrome de Gougerot-Sjögren associé à une sclérodermie

Cited by 10 publications

References 11 publications

Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a <i>SLC12A3</i> Heterozygous Mutation

Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a <i>SLC12A3</i> Heterozygous Mutation

Acquired autoimmune Bartter syndrome in a patient with primary hypothyroidism

Inherited, not acquired, Gitelman syndrome in a patient with Sjögren’s syndrome: importance of genetic testing to distinguish the two forms

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